Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1024205493
rs1024205493
WFS1
1 1.000 0.160 4 6301350 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
2 1.000 0.160 MT 13051 missense variant G/A snv 0.700 1.000 2 2003 2016
dbSNP: rs11539445
rs11539445
YARS2
2 0.925 0.160 12 32755303 missense variant C/A;T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1402000
rs1402000
PARL
1 1.000 0.160 3 183867753 intron variant T/A;C snv 0.020 1.000 2 2010 2010
dbSNP: rs1421865028
rs1421865028
TXNRD1
1 1.000 0.160 12 104319585 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1447956961
rs1447956961
GLIS3
1 1.000 0.160 9 4286272 missense variant C/T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1553249704
rs1553249704
NDUFS2
1 1.000 0.160 1 161206472 missense variant G/A snv 0.700 0
dbSNP: rs1556423844
rs1556423844
ND3 ; ND4 ; ND4L ; ND5
1 1.000 0.160 MT 10663 missense variant T/C snv 0.700 1.000 2 1995 2002
dbSNP: rs1599988
rs1599988
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4216 missense variant T/C snv 0.700 0
dbSNP: rs193302933
rs193302933
ND3 ; ND4 ; ND4L ; ND5
1 1.000 0.160 MT 10664 synonymous variant C/T snv 0.700 0
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
2 0.925 0.160 MT 14484 missense variant T/C snv 0.810 1.000 7 1992 2001
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
4 0.851 0.200 MT 14459 missense variant G/A snv 0.700 0
dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
1 1.000 0.160 MT 14495 missense variant A/G snv 0.800 1.000 5 1992 2001
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
1 1.000 0.160 MT 14482 missense variant C/A;G snv 0.810 1.000 6 1992 2002
dbSNP: rs199476112
rs199476112
ND4 ; ND5
2 0.925 0.160 MT 11778 missense variant G/A snv 0.810 1.000 6 1988 2011
dbSNP: rs199476115
rs199476115
COX1 ; ND2
1 1.000 0.160 MT 5244 missense variant G/A snv 0.800 1.000 2 1991 1992
dbSNP: rs199476118
rs199476118
ND1 ; ND2
3 0.925 0.160 MT 3460 missense variant G/A snv 0.810 1.000 7 1991 2012
dbSNP: rs199476119
rs199476119
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4160 missense variant T/C snv 0.800 1.000 6 1991 1992
dbSNP: rs199476122
rs199476122
ND1 ; ND2
3 0.882 0.280 MT 3697 missense variant G/A snv 0.700 0
dbSNP: rs199476125
rs199476125
ND1 ; ND2
1 1.000 0.160 MT 3733 missense variant G/A snv 0.700 0
dbSNP: rs199476134
rs199476134
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.160 MT 9101 missense variant T/C snv 0.700 1.000 1 1995 1995
dbSNP: rs199974018
rs199974018
CYTB ; ND5
1 1.000 0.160 MT 12811 missense variant T/C snv 0.700 0
dbSNP: rs200336777
rs200336777
CYTB ; ND6
1 1.000 0.160 MT 15812 missense variant G/A snv 0.700 0
dbSNP: rs200613617
rs200613617
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.160 MT 9804 missense variant G/A snv 0.800 0